Genomics England

COL4A3

collagen type IV alpha 3 chain

OMIM: 120070

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200
Green in Haematuria R-numbers: R194 Signed-off version 2.4	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Alport syndrome, autosomal recessive, 203780, Hematuria, benign familial, 141200, Alport syndrome, autosomal dominant, 104200, Alport Syndrome, Hematuria, Benign Familial, Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive, Alport Syndrome, Autosomal Dominant, thin glomerular basement membrane nephropathy or Alport syndrome, Alport syndrome, autosomal dominant, Alport syndrome, autosomal recessive, Alport Syndrome, (originally on Alport syndrome gene panel)
Green in Proteinuric renal disease R-numbers: R195 Signed-off version 4.13	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Alport syndrome, autosomal dominant #104200, Alport syndrome, autosomal recessive #203780, Hematuria, benign familial #141200
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 5.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Alport syndrome, autosomal recessive, 203780, Alport syndrome, autosomal dominant, 104200, Hematuria, benign familial, 141200